Canonical Allele Identifier: CA401028226

Gene: TSEN54

Linked Data

• dbSNP Id: rs2053426114
• gnomAD v4: 17-75521443-C-G
• MyVariant Identifiers: chr17:g.73517524C>G (hg19) ; chr17:g.75521443C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521443C>G , CM000679.2:g.75521443C>G	GRCh38
NC_000017.10:g.73517524C>G , CM000679.1:g.73517524C>G	GRCh37
NC_000017.9:g.71029119C>G	NCBI36
NG_013041.1:g.9916C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.556C>G MANE Select	ENSP00000327487.6:p.Leu186Val
ENST00000434205.8:c.253C>G	ENSP00000406559.4:p.Leu85Val
ENST00000545228.3:c.556C>G	ENSP00000438169.3:p.Leu186Val
ENST00000579449.2:n.355C>G
ENST00000580013.6:n.565C>G
ENST00000583818.2:c.610C>G	ENSP00000461928.2:n.610C>G
ENST00000679370.1:n.943C>G
ENST00000679429.1:c.*14C>G	ENSP00000505403.1:n.*14C>G
ENST00000679443.1:n.431C>G
ENST00000679782.1:c.556C>G	ENSP00000505995.1:p.Leu186Val
ENST00000679919.1:n.431C>G
ENST00000679928.1:c.*167C>G	ENSP00000506071.1:n.*167C>G
ENST00000680528.1:n.581C>G
ENST00000680999.1:c.556C>G	ENSP00000504984.1:p.Leu186Val
ENST00000681282.1:c.556C>G	ENSP00000506339.1:p.Leu186Val
ENST00000333213.10:c.556C>G	ENSP00000327487.6:p.Leu186Val
ENST00000578415.1:c.516C>G
ENST00000583173.5:c.391C>G	ENSP00000463619.1:p.Leu131Val
ENST00000583818.1:c.505C>G	ENSP00000461928.1:n.505C>G
NM_207346.2:c.556C>G	NP_997229.2:p.Leu186Val
XM_005257229.2:c.556C>G	XP_005257286.1:p.Leu186Val
XM_006721821.2:c.253C>G	XP_006721884.1:p.Leu85Val
XM_011524616.1:c.556C>G	XP_011522918.1:p.Leu186Val
XM_011524617.1:c.556C>G	XP_011522919.1:p.Leu186Val
XM_011524618.1:c.556C>G	XP_011522920.1:p.Leu186Val
XR_243646.2:n.586C>G
XM_005257229.4:c.556C>G	XP_005257286.1:p.Leu186Val
XR_243646.4:n.592C>G
NM_207346.3:c.556C>G MANE Select	NP_997229.2:p.Leu186Val